Costello syndrome: report of a new case with choanal atresia and fatal outcome

We describe a girl with motor and mental retardation, macrocephaly, a "coar se" face, choanal atresia, postnatal feeding difficulty, redundant skin wit h deep palmar and plantar creases, and histopathological evidence of altere d elastic fibers, who died at the acre of 11 months. We believe this repres ents another case of Costello syndrome. Lacking papillomata, she had choana l atresia and underwent a fatal outcome at an early age. The differential d iagnosis of cutis laxa in association with postnatal growth retardation and developmental delay and with cardio-facio-cutaneous and Noonan syndromes i s discussed.